Variant report

Variant	esv3355160
Chromosome Location	chr1:180122754-180125702
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:629)
CpG islands
(count:611)
Chromatin interactive
region (count:35)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:629 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:180123619-180123757	HepG2	liver:	n/a	n/a
2	ATF3	chr1:180123923-180124111	K562	blood:	n/a	n/a
3	ATF3	chr1:180123202-180123883	A549	lung:	n/a	n/a
4	BCL3	chr1:180123234-180123846	A549	lung:	n/a	n/a
5	BCLAF1	chr1:180123369-180123852	GM12878	blood:	n/a	n/a
6	BCLAF1	chr1:180123929-180124288	GM12878	blood:	n/a	chr1:180123971-180123984 chr1:180123976-180123989
7	BCLAF1	chr1:180123899-180124257	GM12878	blood:	n/a	chr1:180123971-180123984 chr1:180123976-180123989
8	BHLHE40	chr1:180124483-180124741	K562	blood:	n/a	n/a
9	BHLHE40	chr1:180123411-180124151	GM12878	blood:	n/a	n/a
10	BHLHE40	chr1:180123388-180123784	K562	blood:	n/a	n/a
11	BHLHE40	chr1:180123999-180124231	K562	blood:	n/a	n/a
12	BHLHE40	chr1:180125572-180125999	GM12878	blood:	n/a	n/a
13	BHLHE40	chr1:180125697-180126206	K562	blood:	n/a	n/a
14	BRCA1	chr1:180123540-180123781	Hela-S3	cervix:	n/a	n/a
15	BRCA1	chr1:180124534-180124601	GM12878	blood:	n/a	n/a
16	BRCA1	chr1:180124123-180124132	HepG2	liver:	n/a	n/a
17	CBX3	chr1:180123912-180124230	K562	blood:	n/a	n/a
18	CBX3	chr1:180123384-180123896	K562	blood:	n/a	n/a
19	CCNT2	chr1:180123520-180124300	K562	blood:	n/a	n/a
20	CCNT2	chr1:180125557-180126138	K562	blood:	n/a	n/a
21	CCNT2	chr1:180124544-180124717	K562	blood:	n/a	n/a
22	CEBPB	chr1:180125675-180126529	IMR90	lung:	n/a	chr1:180125853-180125866
23	CEBPB	chr1:180123659-180124200	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr1:180124007-180124151	K562	blood:	n/a	n/a
25	CEBPB	chr1:180123997-180124111	HepG2	liver:	n/a	n/a
26	CEBPD	chr1:180123370-180124082	K562	blood:	n/a	n/a
27	CEBPD	chr1:180123868-180124162	HepG2	liver:	n/a	n/a
28	CHD1	chr1:180123337-180123756	GM12878	blood:	n/a	n/a
29	CHD1	chr1:180122641-180127045	IMR90	lung:	n/a	chr1:180124562-180124572
30	CHD2	chr1:180123254-180124198	K562	blood:	n/a	n/a
31	CHD2	chr1:180124085-180124118	HepG2	liver:	n/a	n/a
32	CHD2	chr1:180123438-180123618	HepG2	liver:	n/a	n/a
33	CHD2	chr1:180123229-180124266	Hela-S3	cervix:	n/a	n/a
34	CHD2	chr1:180123394-180124620	GM12878	blood:	n/a	chr1:180124562-180124572
35	CREB1	chr1:180123341-180124348	HepG2	liver:	n/a	n/a
36	CREB1	chr1:180123794-180124450	H1-hESC	embryonic stem cell:	n/a	n/a
37	CREB1	chr1:180123045-180124769	K562	blood:	n/a	n/a
38	CREB1	chr1:180123371-180124250	A549	lung:	n/a	n/a
39	CTCF	chr1:180124018-180124101	NHEK	skin:	n/a	n/a
40	CTCF	chr1:180124140-180124290	GM12867	blood:	n/a	n/a
41	CTCF	chr1:180123960-180124110	AoAF	blood vessel:	n/a	n/a
42	CTCF	chr1:180124080-180124230	GM12873	blood:	n/a	n/a
43	CTCF	chr1:180123947-180124129	Spleen_OC	spleen:	n/a	chr1:180123952-180123965
44	CTCF	chr1:180123920-180124070	A549	lung:	n/a	chr1:180123952-180123965
45	CTCF	chr1:180124040-180124190	HMEC	breast:	n/a	n/a
46	CTCF	chr1:180123940-180124090	HCPEpiC	choroid plexus:	n/a	chr1:180123952-180123965
47	CTCF	chr1:180123960-180124110	K562	blood:	n/a	n/a
48	CTCF	chr1:180124011-180124039	GM12891	blood:	n/a	n/a
49	CTCF	chr1:180123947-180124112	Kidney_OC	kidney:	n/a	chr1:180123952-180123965
50	CTCF	chr1:180123960-180124110	AG09319	gingival:	n/a	n/a

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:180124539-180124589	SK-N-MC	brain:	n/a
2	chr1:180124539-180124589	SK-N-MC	brain:	n/a
3	chr1:180123798-180123848	LNCaP	prostate:	n/a
4	chr1:180124335-180124385	RPTEC	kidney:	n/a
5	chr1:180123948-180123998	NHBE	bronchial:	n/a
6	chr1:180123983-180124033	Jurkat	blood:	n/a
7	chr1:180124335-180124385	ProgFib	skin:	n/a
8	chr1:180124539-180124589	GM06990	blood:	n/a
9	chr1:180124071-180124121	HMEC	breast:	n/a
10	chr1:180123704-180123754	U87	brain:	n/a
11	chr1:180123222-180123272	AG04449	skin:	fetal
12	chr1:180123798-180123848	PFSK-1	brain:	n/a
13	chr1:180124335-180124385	SK-N-MC	brain:	n/a
14	chr1:180124335-180124385	HCT-116	colon:	n/a
15	chr1:180123798-180123848	Jurkat	blood:	n/a
16	chr1:180123798-180123848	A549	lung:	n/a
17	chr1:180123983-180124033	NHDF-neo	bronchial:	n/a
18	chr1:180123704-180123754	HCT-116	colon:	n/a
19	chr1:180123704-180123754	HIPEpiC	eye:	n/a
20	chr1:180123317-180123367	HEEpiC	esophagus:	n/a
21	chr1:180123798-180123848	AG09309	skin:	n/a
22	chr1:180123222-180123272	Caco-2	colon:	n/a
23	chr1:180123798-180123848	HNPCEpiC	eye:	n/a
24	chr1:180123948-180123998	K562	blood:	n/a
25	chr1:180124335-180124385	HCPEpiC	choroid plexus:	n/a
26	chr1:180123983-180124033	HCT-116	colon:	n/a
27	chr1:180123796-180123846	Caco-2	colon:	n/a
28	chr1:180123317-180123367	AG09309	skin:	n/a
29	chr1:180123983-180124033	Hepatocyte	liver:	n/a
30	chr1:180123704-180123754	PANC-1	pancreas:	n/a
31	chr1:180123704-180123754	LNCaP	prostate:	n/a
32	chr1:180124335-180124385	ovcar-3	ovarian:	n/a
33	chr1:180124539-180124589	T-47D	breast:	n/a
34	chr1:180123704-180123754	HRCEpiC	kidney:	n/a
35	chr1:180124335-180124385	SK-N-SH_RA	brain:	n/a
36	chr1:180123948-180123998	GM12878	blood:	n/a
37	chr1:180124071-180124121	Hepatocyte	liver:	n/a
38	chr1:180123704-180123754	Jurkat	blood:	n/a
39	chr1:180124539-180124589	SK-N-SH_RA	brain:	n/a
40	chr1:180124335-180124385	GM06990	blood:	n/a
41	chr1:180123222-180123272	A549	lung:	n/a
42	chr1:180123222-180123272	GM12892	blood:	n/a
43	chr1:180123704-180123754	ECC-1	luminal epithelium:	n/a
44	chr1:180124071-180124121	RPTEC	kidney:	n/a
45	chr1:180123983-180124033	GM19239	blood:	n/a
46	chr1:180123796-180123846	PFSK-1	brain:	n/a
47	chr1:180123798-180123848	HEK293	kidney:	embryo
48	chr1:180124071-180124121	U87	brain:	n/a
49	chr1:180124539-180124589	NH-A	brain:	n/a
50	chr1:180123222-180123272	HNPCEpiC	eye:	n/a

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:180051158..180053588-chr1:180124507..180126558,2	K562	blood:
2	chr1:180124065..180124574-chr1:180137270..180137775,2	MCF-7	breast:
3	chr1:180039217..180042128-chr1:180125172..180126963,2	K562	blood:
4	chr1:179845447..179846955-chr1:180125305..180127512,2	K562	blood:
5	chr1:179844379..179846987-chr1:180122185..180123975,2	MCF-7	breast:
6	chr1:180067842..180070098-chr1:180124230..180125960,2	MCF-7	breast:
7	chr1:180122502..180123389-chr11:62608695..62609423,2	HCT-116	colon:
8	chr1:179922139..179925093-chr1:180123797..180126783,3	K562	blood:
9	chr1:180094856..180097003-chr1:180124933..180127557,2	K562	blood:
10	chr1:180123093..180123878-chr14:81687002..81687977,2	Hela-S3	cervix:
11	chr1:180122867..180124515-chr12:122237701..122240027,2	MCF-7	breast:
12	chr1:179843719..179847778-chr1:180121939..180127812,8	K562	blood:
13	chr1:180060321..180062626-chr1:180121553..180123534,4	MCF-7	breast:
14	chr1:180123247..180124010-chr10:106097820..106098659,2	Hela-S3	cervix:
15	chr1:179849468..179853023-chr1:180122560..180126275,4	K562	blood:
16	chr1:180094624..180096269-chr1:180125316..180126971,2	MCF-7	breast:
17	chr1:180075321..180078076-chr1:180124133..180126626,2	K562	blood:
18	chr1:180123486..180124377-chrX:53350238..53351237,2	MCF-7	breast:
19	chr1:180123601..180124224-chr14:78174006..78174785,2	NB4	blood:
20	chr1:8937559..8938400-chr1:180123331..180124251,2	Hela-S3	cervix:
21	chr1:180123549..180124057-chr5:176924083..176924757,2	Hela-S3	cervix:
22	chr1:180109932..180112525-chr1:180121644..180123894,2	MCF-7	breast:
23	chr1:180061211..180064450-chr1:180123630..180126274,3	MCF-7	breast:
24	chr1:180123681..180124534-chr16:66967758..66968260,2	Hela-S3	cervix:
25	chr1:180123935..180126561-chr1:180199070..180201304,3	MCF-7	breast:
26	chr1:180123151..180123859-chr12:16034873..16035578,2	HCT-116	colon:
27	chr1:180112122..180113810-chr1:180124529..180126032,2	MCF-7	breast:
28	chr1:180123409..180123996-chr11:62609034..62610004,2	Hela-S3	cervix:
29	chr1:180123619..180124402-chr7:66147119..66147881,2	NB4	blood:
30	chr1:179844894..179847778-chr1:180122782..180124340,2	K562	blood:
31	chr1:180123605..180124282-chr15:51200703..51201684,2	MCF-7	breast:
32	chr1:179850220..179853546-chr1:180124207..180127412,4	MCF-7	breast:
33	chr1:180095863..180097872-chr1:180124437..180126586,3	MCF-7	breast:
34	chr1:179923898..179926923-chr1:180121889..180124249,4	MCF-7	breast:
35	chr1:180123484..180124292-chr16:46722902..46723601,2	HCT-116	colon:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACBD6-3	chr1:180123134-180123641	NONHSAT008242
2	lnc-ACBD6-3	chr1:180123543-180123589	XLOC_001110

No data

Variant related genes	Relation type
QSOX1	TF binding region
QSOX1	CpG island
ENSG00000023734	chromatin interactions
ENSG00000166595	chromatin interactions
ENSG00000148841	chromatin interactions
ENSG00000151491	chromatin interactions
ENSG00000154710	chromatin interactions
ENSG00000272906	chromatin interactions
ENSG00000143337	chromatin interactions
ENSG00000135837	chromatin interactions
ENSG00000169905	chromatin interactions
ENSG00000100601	chromatin interactions
ENSG00000260360	chromatin interactions
ENSG00000124313	chromatin interactions
ENSG00000165417	chromatin interactions
ENSG00000069329	chromatin interactions
ENSG00000119705	chromatin interactions
ENSG00000121454	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000074800	chromatin interactions
ENSG00000196923	chromatin interactions
ENSG00000236269	chromatin interactions
ENSG00000139725	chromatin interactions
ENSG00000212694	chromatin interactions
ENSG00000081014	chromatin interactions
ENSG00000091651	chromatin interactions

Extended variants
information (count: 136 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556924710	chr1:180122804-180122805	Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs7516257	chr1:180122812-180122813	Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs562286124	chr1:180122815-180122816	Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs115400209	chr1:180122882-180122883	Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs375844629	chr1:180122915-180122916	Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs565376770	chr1:180122938-180122939	Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs185188077	chr1:180122967-180122968	Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs541521720	chr1:180122968-180122969	Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs190476560	chr1:180122977-180122978	Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs544558090	chr1:180122978-180122979	Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs3845392	chr1:180122985-180122986	Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs181926611	chr1:180123076-180123077	Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs569658593	chr1:180123104-180123105	Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs112399415	chr1:180123118-180123119	Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs372716921	chr1:180123121-180123122	Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs532174975	chr1:180123140-180123141	Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
17	rs552040618	chr1:180123159-180123160	Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
18	rs565879586	chr1:180123219-180123220	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
19	rs528898422	chr1:180123252-180123253	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
20	rs534386949	chr1:180123255-180123256	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
21	rs554673045	chr1:180123303-180123304	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
22	rs183530131	chr1:180123322-180123323	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
23	rs530420267	chr1:180123365-180123366	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
24	rs7541022	chr1:180123375-180123376	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs188274921	chr1:180123407-180123408	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
26	rs368772922	chr1:180123414-180123415	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
27	rs528187520	chr1:180123415-180123416	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
28	rs576854664	chr1:180123420-180123421	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
29	rs539320667	chr1:180123435-180123436	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
30	rs546361568	chr1:180123517-180123518	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
31	rs3753813	chr1:180123538-180123539	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs547127566	chr1:180123549-180123550	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
33	rs572614603	chr1:180123565-180123566	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
34	rs541136243	chr1:180123571-180123572	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
35	rs561072170	chr1:180123581-180123582	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
36	rs61828286	chr1:180123585-180123586	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	18 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs543460810	chr1:180123601-180123602	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	20 gene(s)	Overlapped CNVs	n/a
38	rs181150111	chr1:180123631-180123632	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
39	rs532267395	chr1:180123638-180123639	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
40	rs552462984	chr1:180123643-180123644	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
41	rs559254934	chr1:180123651-180123652	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
42	rs185621442	chr1:180123671-180123672	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
43	rs547962427	chr1:180123681-180123682	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
44	rs568202755	chr1:180123688-180123689	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
45	rs537040857	chr1:180123691-180123692	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
46	rs550547827	chr1:180123693-180123694	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
47	rs570470924	chr1:180123697-180123698	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
48	rs191555511	chr1:180123717-180123718	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
49	rs7531169	chr1:180123812-180123813	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	24 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs7531170	chr1:180123815-180123816	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	24 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	16397240	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD

Chromatin state (count:597 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180118400-180123000	Weak transcription	Right Atrium	heart
2	chr1:180119600-180122800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:180119600-180122800	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr1:180119600-180123000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:180119600-180123000	Enhancers	NHDF-Ad	bronchial
6	chr1:180119600-180123000	Enhancers	NHLF	lung
7	chr1:180120400-180122800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:180120400-180122800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:180120400-180122800	Weak transcription	Fetal Lung	lung
10	chr1:180120400-180123000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:180120800-180122800	Weak transcription	Fetal Heart	heart
12	chr1:180121000-180123000	Weak transcription	Primary B cells from cord blood	blood
13	chr1:180121200-180122800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr1:180121200-180122800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:180121200-180123000	Weak transcription	HSMMtube	muscle
16	chr1:180121400-180122800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:180121400-180122800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:180121400-180122800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:180121400-180122800	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr1:180121400-180122800	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr1:180121400-180122800	Weak transcription	Fetal Brain Female	brain
22	chr1:180121400-180122800	Weak transcription	Hela-S3	cervix
23	chr1:180121400-180122800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr1:180121400-180122800	Weak transcription	NHEK	skin
25	chr1:180121400-180123000	Weak transcription	Placenta	Placenta
26	chr1:180121400-180123000	Weak transcription	HSMM	muscle
27	chr1:180121400-180123000	Enhancers	HUVEC	blood vessel
28	chr1:180121400-180123000	Weak transcription	NH-A	brain
29	chr1:180121600-180122800	Weak transcription	A549	lung
30	chr1:180121600-180122800	Enhancers	K562	blood
31	chr1:180121800-180122800	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr1:180121800-180122800	Enhancers	Dnd41	blood
33	chr1:180121800-180122800	Weak transcription	Osteobl	bone
34	chr1:180122000-180122800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:180122000-180123000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr1:180122200-180123000	Weak transcription	HMEC	breast
37	chr1:180122400-180123000	Enhancers	Pancreas	Pancrea
38	chr1:180122400-180123200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:180122400-180124600	Active TSS	Esophagus	oesophagus
40	chr1:180122400-180125000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:180122600-180122800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:180122600-180122800	Enhancers	Rectal Smooth Muscle	rectum
43	chr1:180122600-180122800	Enhancers	Stomach Smooth Muscle	stomach
44	chr1:180122600-180123000	Bivalent Enhancer	HepG2	liver
45	chr1:180122800-180123000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr1:180122800-180123000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
47	chr1:180122800-180123000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
48	chr1:180122800-180123000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:180122800-180123000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:180122800-180123000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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